Linked Data
ClinVar Variation Id:
794378
ClinVar RCV Id:
RCV000977628
dbSNP Id:
rs368677003
ExAC:
9:100437847 G / A
gnomAD v2:
9-100437847-G-A
gnomAD v3:
9-97675565-G-A
gnomAD v4:
9-97675565-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97675565G>A , CM000671.2:g.97675565G>A | GRCh38 |
| NC_000009.11:g.100437847G>A , CM000671.1:g.100437847G>A | GRCh37 |
| NC_000009.10:g.99477668G>A | NCBI36 |
| NG_011642.1:g.26845C>T , LRG_471:g.26845C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375128.5:c.696C>T MANE Select | ENSP00000364270.5:p.Ser232= | |
| ENST00000375128.4:c.696C>T | ENSP00000364270.4:p.Ser232= | |
| ENST00000462523.5:c.*132C>T | ENSP00000433006.1:n.*132C>T | |
| ENST00000485042.1:n.208C>T | ||
| NM_000380.3:c.696C>T , LRG_471t1:c.696C>T | NP_000371.1:p.Ser232= | |
| NR_027302.1:n.1044C>T | ||
| XM_006717278.1:c.696C>T | XP_006717341.1:p.Ser232= | |
| XM_011518988.1:c.696C>T | XP_011517290.1:p.Ser232= | |
| XR_929839.1:n.1227C>T | ||
| NM_001354975.1:c.570C>T | NP_001341904.1:p.Ser190= | |
| NR_149091.1:n.541C>T | ||
| NR_149092.1:n.707C>T | ||
| NR_149093.1:n.1233C>T | ||
| NR_149094.1:n.1127C>T | ||
| NM_000380.4:c.696C>T MANE Select | NP_000371.1:p.Ser232= | |
| NM_001354975.2:c.570C>T | NP_001341904.1:p.Ser190= | |
| NR_027302.2:n.975C>T | ||
| NR_149091.2:n.472C>T | ||
| NR_149092.2:n.638C>T | ||
| NR_149093.2:n.1164C>T | ||
| NR_149094.2:n.1058C>T |