Linked Data
ClinVar Variation Id:
215010
ClinVar RCV Id:
RCV000197606
RCV000680151
RCV000787360
RCV001089488
RCV001266860
RCV003152598
RCV003147399
dbSNP Id:
rs143712760
ExAC:
2:55874565 C / A
gnomAD v2:
2-55874565-C-A
gnomAD v3:
2-55647430-C-A
gnomAD v4:
2-55647430-C-A
PubMed:
PMID:25457163
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55647430C>A , CM000664.2:g.55647430C>A | GRCh38 |
| NC_000002.11:g.55874565C>A , CM000664.1:g.55874565C>A | GRCh37 |
| NC_000002.10:g.55728069C>A | NCBI36 |
| NG_033012.1:g.51481G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447944.7:c.1519G>T MANE Select | ENSP00000400646.2:p.Ala507Ser | |
| ENST00000260604.8:c.*1074G>T | ENSP00000260604.4:n.*1074G>T | |
| ENST00000415374.5:c.1519G>T | ENSP00000393953.1:p.Ala507Ser | |
| ENST00000415489.1:c.526G>T | ||
| ENST00000447944.6:c.1519G>T | ENSP00000400646.2:p.Ala507Ser | |
| NM_033109.4:c.1519G>T | NP_149100.2:p.Ala507Ser | |
| XM_005264629.1:c.1279G>T | XP_005264686.1:p.Ala427Ser | |
| XM_011533142.1:c.*51G>T | XP_011531444.1:n.*51G>T | |
| XM_005264629.2:c.1279G>T | XP_005264686.1:p.Ala427Ser | |
| XM_017005172.1:c.1279G>T | XP_016860661.1:p.Ala427Ser | |
| XR_001739010.1:n.1596G>T | ||
| NM_033109.5:c.1519G>T MANE Select | NP_149100.2:p.Ala507Ser |