Linked Data
dbSNP Id:
rs916551364
gnomAD v2:
6-31322011-G-A
gnomAD v3:
6-31354234-G-A
gnomAD v4:
6-31354234-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31354234G>A , CM000668.2:g.31354234G>A | GRCh38 |
| NC_000006.11:g.31322011G>A , CM000668.1:g.31322011G>A | GRCh37 |
| NC_000006.10:g.31429990G>A | NCBI36 |
| NG_023187.1:g.7979C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.3203C>T | ||
| ENST00000481849.6:n.3163C>T | ||
| ENST00000497377.6:n.3070C>T | ||
| ENST00000696558.1:c.1225C>T | ENSP00000512716.1:n.1225C>T | |
| ENST00000696559.1:c.*67C>T | ENSP00000512717.1:n.*67C>T | |
| ENST00000696560.1:c.*67C>T | ENSP00000512718.1:n.*67C>T | |
| ENST00000696561.1:c.*67C>T | ENSP00000512719.1:n.*67C>T | |
| ENST00000696562.1:c.*67C>T | ENSP00000512720.1:n.*67C>T | |
| ENST00000412585.7:c.*67C>T MANE Select | ENSP00000399168.2:n.*67C>T | |
| ENST00000412585.6:c.*67C>T | ENSP00000399168.2:n.*67C>T | |
| ENST00000481849.5:n.391C>T | ||
| ENST00000497377.5:n.555C>T | ||
| NM_005514.6:c.*67C>T | NP_005505.2:n.*67C>T | |
| XM_011514556.1:c.*67C>T | XP_011512858.1:n.*67C>T | |
| XM_011514557.1:c.*67C>T | XP_011512859.1:n.*67C>T | |
| XR_926175.1:n.1595C>T | ||
| NM_005514.7:c.*67C>T | NP_005505.2:n.*67C>T | |
| NM_005514.8:c.*67C>T MANE Select | NP_005505.2:n.*67C>T |