Linked Data
ClinVar Variation Id:
254700
dbSNP Id:
rs140566084
ExAC:
17:7124115 A / G
gnomAD v2:
17-7124115-A-G
gnomAD v3:
17-7220796-A-G
gnomAD v4:
17-7220796-A-G
ERepo:
CA8337646/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7220796A>G , CM000679.2:g.7220796A>G | GRCh38 |
| NC_000017.10:g.7124115A>G , CM000679.1:g.7124115A>G | GRCh37 |
| NC_000017.9:g.7064839A>G | NCBI36 |
| NG_007975.1:g.5963A>G | |
| NG_008391.2:g.4255T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.308A>G MANE Select | ENSP00000349297.5:p.Lys103Arg | |
| ENST00000322910.9:c.*263A>G | ENSP00000325395.5:n.*263A>G | |
| ENST00000350303.9:c.242A>G | ENSP00000344152.5:p.Lys81Arg | |
| ENST00000356839.9:c.308A>G | ENSP00000349297.5:p.Lys103Arg | |
| ENST00000543245.6:c.377A>G | ENSP00000438689.2:p.Lys126Arg | |
| ENST00000577191.5:n.385A>G | ||
| ENST00000577433.5:n.516A>G | ||
| ENST00000577857.5:n.259A>G | ||
| ENST00000579286.5:n.489A>G | ||
| ENST00000579886.2:c.202-149A>G | ENSP00000463246.1:n.202-149A>G | |
| ENST00000580365.1:n.39A>G | ||
| ENST00000581378.5:c.7A>G | ||
| ENST00000581562.5:n.355A>G | ||
| ENST00000582056.5:n.398A>G | ||
| ENST00000582166.1:n.196A>G | ||
| ENST00000582356.5:n.507A>G | ||
| ENST00000583312.5:c.308A>G | ENSP00000467920.1:p.Lys103Arg | |
| ENST00000584103.5:c.308A>G | ENSP00000465353.1:p.Lys103Arg | |
| NM_000018.3:c.308A>G | NP_000009.1:p.Lys103Arg | |
| NM_001033859.2:c.242A>G | NP_001029031.1:p.Lys81Arg | |
| NM_001270447.1:c.377A>G | NP_001257376.1:p.Lys126Arg | |
| NM_001270448.1:c.80A>G | NP_001257377.1:p.Lys27Arg | |
| XM_006721516.2:c.308A>G | XP_006721579.2:p.Lys103Arg | |
| XM_011523829.1:c.308A>G | XP_011522131.1:p.Lys103Arg | |
| XM_011523830.1:c.308A>G | XP_011522132.1:p.Lys103Arg | |
| XR_934021.1:n.415A>G | ||
| XR_934022.1:n.415A>G | ||
| XR_934023.1:n.415A>G | ||
| XM_006721516.3:c.308A>G | XP_006721579.2:p.Lys103Arg | |
| XM_011523829.2:c.308A>G | XP_011522131.1:p.Lys103Arg | |
| XM_011523830.2:c.308A>G | XP_011522132.1:p.Lys103Arg | |
| XM_024450741.1:c.308A>G | XP_024306509.1:p.Lys103Arg | |
| XR_934021.2:n.367A>G | ||
| XR_934022.2:n.367A>G | ||
| XR_934023.2:n.367A>G | ||
| NM_000018.4:c.308A>G MANE Select | NP_000009.1:p.Lys103Arg | |
| NM_001033859.3:c.242A>G | NP_001029031.1:p.Lys81Arg | |
| NM_001270447.2:c.377A>G | NP_001257376.1:p.Lys126Arg | |
| NM_001270448.2:c.80A>G | NP_001257377.1:p.Lys27Arg |