Linked Data
dbSNP Id:
rs758783010
ExAC:
10:105921740 C / T
gnomAD v2:
10-105921740-C-T
gnomAD v4:
10-104161982-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104161982C>T , CM000672.2:g.104161982C>T | GRCh38 |
| NC_000010.10:g.105921740C>T , CM000672.1:g.105921740C>T | GRCh37 |
| NC_000010.9:g.105911730C>T | NCBI36 |
| NG_051581.1:g.75396G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357060.8:c.3393G>A MANE Select | ENSP00000349568.3:p.Lys1131= | |
| ENST00000357060.7:c.3393G>A | ENSP00000349568.3:p.Lys1131= | |
| ENST00000434629.5:c.1475G>A | ||
| NM_025145.5:c.3393G>A | NP_079421.5:p.Lys1131= | |
| XM_005270171.1:c.3396G>A | XP_005270228.1:p.Lys1132= | |
| XM_005270172.2:c.3396G>A | XP_005270229.1:p.Lys1132= | |
| XM_011540196.1:c.3510G>A | XP_011538498.1:p.Lys1170= | |
| XM_011540197.1:c.3510G>A | XP_011538499.1:p.Lys1170= | |
| XM_011540198.1:c.3393G>A | XP_011538500.1:p.Lys1131= | |
| XM_011540199.1:c.3393G>A | XP_011538501.1:p.Lys1131= | |
| XM_011540200.1:c.3510G>A | XP_011538502.1:p.Lys1170= | |
| XM_011540201.1:c.3510G>A | XP_011538503.1:p.Lys1170= | |
| XM_011540202.1:c.2739G>A | XP_011538504.1:p.Lys913= | |
| XM_011540203.1:c.1293G>A | XP_011538505.1:p.Lys431= | |
| NM_025145.6:c.3393G>A | NP_079421.5:p.Lys1131= | |
| XM_005270171.2:c.3396G>A | XP_005270228.1:p.Lys1132= | |
| XM_005270172.3:c.3396G>A | XP_005270229.1:p.Lys1132= | |
| XM_011540196.2:c.3510G>A | XP_011538498.1:p.Lys1170= | |
| XM_011540197.2:c.3510G>A | XP_011538499.1:p.Lys1170= | |
| XM_011540198.2:c.3393G>A | XP_011538500.1:p.Lys1131= | |
| XM_011540199.2:c.3393G>A | XP_011538501.1:p.Lys1131= | |
| XM_011540200.2:c.3510G>A | XP_011538502.1:p.Lys1170= | |
| XM_011540201.2:c.3510G>A | XP_011538503.1:p.Lys1170= | |
| XM_011540202.2:c.2739G>A | XP_011538504.1:p.Lys913= | |
| XM_017016681.1:c.3507G>A | XP_016872170.1:p.Lys1169= | |
| XM_017016682.1:c.3162G>A | XP_016872171.1:p.Lys1054= | |
| XM_024448177.1:c.1896G>A | XP_024303945.1:p.Lys632= | |
| XM_024448178.1:c.1293G>A | XP_024303946.1:p.Lys431= | |
| XR_002957015.1:n.3279G>A | ||
| NM_025145.7:c.3393G>A MANE Select | NP_079421.5:p.Lys1131= |