Linked Data
ClinVar Variation Id:
99889
ClinVar RCV Id:
RCV000086329
RCV001080662
RCV001831901
RCV002477255
RCV003453020
RCV003453022
RCV003453021
dbSNP Id:
rs62645757
ExAC:
1:197398725 G / A
gnomAD v2:
1-197398725-G-A
gnomAD v3:
1-197429595-G-A
gnomAD v4:
1-197429595-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197429595G>A , CM000663.2:g.197429595G>A | GRCh38 |
| NC_000001.10:g.197398725G>A , CM000663.1:g.197398725G>A | GRCh37 |
| NC_000001.9:g.195665348G>A | NCBI36 |
| NG_008483.1:g.166318G>A | |
| NG_008483.2:g.233134G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.2823G>A MANE Select | ENSP00000356370.3:p.Pro941= | |
| ENST00000638467.1:c.2823G>A | ENSP00000491102.1:p.Pro941= | |
| ENST00000681519.1:c.1704G>A | ENSP00000505267.1:p.Pro568= | |
| ENST00000367397.1:c.966G>A | ENSP00000356367.1:p.Pro322= | |
| ENST00000367399.6:c.2487G>A | ENSP00000356369.2:p.Pro829= | |
| ENST00000367400.7:c.2823G>A | ENSP00000356370.3:p.Pro941= | |
| ENST00000484075.5:c.2823G>A | ENSP00000433932.1:p.Pro941= | |
| ENST00000535699.5:c.2751G>A | ENSP00000438786.1:p.Pro917= | |
| ENST00000538660.5:c.2129-6005G>A | ENSP00000438091.1:n.2129-6005G>A | |
| NM_001193640.1:c.2487G>A | NP_001180569.1:p.Pro829= | |
| NM_001257965.1:c.2751G>A | NP_001244894.1:p.Pro917= | |
| NM_001257966.1:c.2129-6005G>A | NP_001244895.1:n.2129-6005G>A | |
| NM_201253.2:c.2823G>A | NP_957705.1:p.Pro941= | |
| NR_047563.1:n.2824G>A | ||
| NR_047564.1:n.3032G>A | ||
| XM_011509365.1:c.2823G>A | XP_011507667.1:p.Pro941= | |
| XM_011509366.1:c.2823G>A | XP_011507668.1:p.Pro941= | |
| XM_011509367.1:c.2823G>A | XP_011507669.1:p.Pro941= | |
| XM_011509368.1:c.2241G>A | XP_011507670.1:p.Pro747= | |
| XM_011509369.1:c.1266G>A | XP_011507671.1:p.Pro422= | |
| XM_011509365.2:c.2823G>A | XP_011507667.1:p.Pro941= | |
| XM_011509369.2:c.1266G>A | XP_011507671.1:p.Pro422= | |
| XM_017000851.1:c.1980G>A | XP_016856340.1:p.Pro660= | |
| XM_017000852.1:c.2958G>A | XP_016856341.1:p.Pro986= | |
| NM_201253.3:c.2823G>A MANE Select | NP_957705.1:p.Pro941= | |
| NM_001193640.2:c.2487G>A | NP_001180569.1:p.Pro829= | |
| NM_001257965.2:c.2751G>A | NP_001244894.1:p.Pro917= | |
| NR_047563.2:n.2776G>A | ||
| NR_047564.2:n.2984G>A | ||
| NM_001257966.2:c.2129-6005G>A | NP_001244895.1:n.2129-6005G>A |