Linked Data
dbSNP Id:
rs1254541585
gnomAD v2:
2-141721203-G-A
gnomAD v3:
2-140963634-G-A
gnomAD v4:
2-140963634-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.140963634G>A , CM000664.2:g.140963634G>A | GRCh38 |
| NC_000002.11:g.141721203G>A , CM000664.1:g.141721203G>A | GRCh37 |
| NC_000002.10:g.141437673G>A | NCBI36 |
| NG_051023.1:g.1173830C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389484.8:c.2888-11694C>T MANE Select | ENSP00000374135.3:n.2888-11694C>T | |
| ENST00000389484.7:c.2888-11694C>T | ENSP00000374135.3:n.2888-11694C>T | |
| ENST00000434794.1:c.323-11694C>T | ENSP00000413239.1:n.323-11694C>T | |
| ENST00000618808.4:c.2546-11694C>T | ENSP00000478868.1:n.2546-11694C>T | |
| NM_018557.2:c.2888-11694C>T | NP_061027.2:n.2888-11694C>T | |
| XM_011511352.1:c.2999-11694C>T | XP_011509654.1:n.2999-11694C>T | |
| XM_017004341.1:c.2498-11694C>T | XP_016859830.1:n.2498-11694C>T | |
| XR_001738778.1:n.4622-11694C>T | ||
| NM_018557.3:c.2888-11694C>T MANE Select | NP_061027.2:n.2888-11694C>T |