Linked Data
dbSNP Id:
rs530914800
ExAC:
17:7124951 T / C
gnomAD v2:
17-7124951-T-C
gnomAD v3:
17-7221632-T-C
gnomAD v4:
17-7221632-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221632T>C , CM000679.2:g.7221632T>C | GRCh38 |
| NC_000017.10:g.7124951T>C , CM000679.1:g.7124951T>C | GRCh37 |
| NC_000017.9:g.7065675T>C | NCBI36 |
| NG_007975.1:g.6799T>C | |
| NG_008391.2:g.3419A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.572T>C MANE Select | ENSP00000349297.5:p.Leu191Pro | |
| ENST00000322910.9:c.*527T>C | ENSP00000325395.5:n.*527T>C | |
| ENST00000350303.9:c.506T>C | ENSP00000344152.5:p.Leu169Pro | |
| ENST00000356839.9:c.572T>C | ENSP00000349297.5:p.Leu191Pro | |
| ENST00000543245.6:c.641T>C | ENSP00000438689.2:p.Leu214Pro | |
| ENST00000577191.5:n.649T>C | ||
| ENST00000577433.5:n.780T>C | ||
| ENST00000577857.5:n.388T>C | ||
| ENST00000579286.5:n.753T>C | ||
| ENST00000579886.2:c.410T>C | ENSP00000463246.1:p.Leu137Pro | |
| ENST00000580365.1:n.303T>C | ||
| ENST00000581378.5:c.290T>C | ||
| ENST00000581562.5:n.525-320T>C | ||
| ENST00000583312.5:c.572T>C | ENSP00000467920.1:p.Leu191Pro | |
| ENST00000583760.1:n.354T>C | ||
| NM_000018.3:c.572T>C | NP_000009.1:p.Leu191Pro | |
| NM_001033859.2:c.506T>C | NP_001029031.1:p.Leu169Pro | |
| NM_001270447.1:c.641T>C | NP_001257376.1:p.Leu214Pro | |
| NM_001270448.1:c.344T>C | NP_001257377.1:p.Leu115Pro | |
| XM_006721516.2:c.572T>C | XP_006721579.2:p.Leu191Pro | |
| XM_011523829.1:c.572T>C | XP_011522131.1:p.Leu191Pro | |
| XM_011523830.1:c.572T>C | XP_011522132.1:p.Leu191Pro | |
| XR_934021.1:n.679T>C | ||
| XR_934022.1:n.679T>C | ||
| XR_934023.1:n.679T>C | ||
| XM_006721516.3:c.572T>C | XP_006721579.2:p.Leu191Pro | |
| XM_011523829.2:c.572T>C | XP_011522131.1:p.Leu191Pro | |
| XM_011523830.2:c.572T>C | XP_011522132.1:p.Leu191Pro | |
| XM_024450741.1:c.572T>C | XP_024306509.1:p.Leu191Pro | |
| XR_934021.2:n.631T>C | ||
| XR_934022.2:n.631T>C | ||
| XR_934023.2:n.631T>C | ||
| NM_000018.4:c.572T>C MANE Select | NP_000009.1:p.Leu191Pro | |
| NM_001033859.3:c.506T>C | NP_001029031.1:p.Leu169Pro | |
| NM_001270447.2:c.641T>C | NP_001257376.1:p.Leu214Pro | |
| NM_001270448.2:c.344T>C | NP_001257377.1:p.Leu115Pro |