gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31356709A>G , CM000679.2:g.31356709A>G | GRCh38 |
| NC_000017.10:g.29683727A>G , CM000679.1:g.29683727A>G | GRCh37 |
| NC_000017.9:g.26707853A>G | NCBI36 |
| NG_009018.1:g.266733A>G , LRG_214:g.266733A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.7720+127A>G | ENSP00000512431.1:n.7720+127A>G | |
| ENST00000684826.1:c.2302+127A>G | ENSP00000509994.1:n.2302+127A>G | |
| ENST00000687027.1:c.1894+127A>G | ENSP00000508715.1:n.1894+127A>G | |
| ENST00000687863.1:n.4383+127A>G | ||
| ENST00000689464.1:c.788+127A>G | ||
| ENST00000691014.1:c.7768+127A>G | ENSP00000510595.1:n.7768+127A>G | |
| ENST00000693617.1:c.2302+127A>G | ENSP00000510031.1:n.2302+127A>G | |
| ENST00000358273.9:c.7738+127A>G MANE Select | ENSP00000351015.4:n.7738+127A>G | |
| ENST00000356175.7:c.7675+127A>G | ENSP00000348498.3:n.7675+127A>G | |
| ENST00000358273.8:c.7738+127A>G | ENSP00000351015.4:n.7738+127A>G | |
| ENST00000456735.6:c.6673+127A>G | ENSP00000389907.2:n.6673+127A>G | |
| ENST00000471572.6:c.1121+127A>G | ||
| ENST00000577967.1:n.906A>G | ||
| ENST00000579081.5:c.7874+127A>G | ENSP00000462408.1:n.7874+127A>G | |
| ENST00000581790.5:c.723+127A>G | ||
| NM_000267.3:c.7675+127A>G , LRG_214t1:c.7675+127A>G | NP_000258.1:n.7675+127A>G | |
| NM_001042492.2:c.7738+127A>G , LRG_214t2:c.7738+127A>G | NP_001035957.1:n.7738+127A>G | |
| XM_005257983.1:c.7738+127A>G | XP_005258040.1:n.7738+127A>G | |
| XM_005257984.1:c.7675+127A>G | XP_005258041.1:n.7675+127A>G | |
| XM_006721922.1:c.7768+127A>G | XP_006721985.1:n.7768+127A>G | |
| XM_006721923.2:c.7729+127A>G | XP_006721986.1:n.7729+127A>G | |
| XM_006721924.1:c.7768+127A>G | XP_006721987.1:n.7768+127A>G | |
| XM_006721925.1:c.7705+127A>G | XP_006721988.1:n.7705+127A>G | |
| XM_006721926.2:c.7768+127A>G | XP_006721989.1:n.7768+127A>G | |
| XM_006721927.1:c.7768+127A>G | XP_006721990.1:n.7768+127A>G | |
| XM_011524852.1:c.7765+127A>G | XP_011523154.1:n.7765+127A>G | |
| XM_011524853.1:c.7729+127A>G | XP_011523155.1:n.7729+127A>G | |
| XM_011524854.1:c.7729+127A>G | XP_011523156.1:n.7729+127A>G | |
| XM_011524855.1:c.7729+127A>G | XP_011523157.1:n.7729+127A>G | |
| XM_011524856.1:c.7729+127A>G | XP_011523158.1:n.7729+127A>G | |
| XM_011524857.1:c.7646-251A>G | XP_011523159.1:n.7646-251A>G | |
| NM_001042492.3:c.7738+127A>G MANE Select | NP_001035957.1:n.7738+127A>G |