Linked Data
dbSNP Id:
rs1250069281
gnomAD v2:
6-49586811-A-G
gnomAD v3:
6-49619098-A-G
gnomAD v4:
6-49619098-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49619098A>G , CM000668.2:g.49619098A>G | GRCh38 |
| NC_000006.11:g.49586811A>G , CM000668.1:g.49586811A>G | GRCh37 |
| NC_000006.10:g.49694770A>G | NCBI36 |
| NG_011704.1:g.22777T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371175.10:c.341+81T>C MANE Select | ENSP00000360217.4:n.341+81T>C | |
| ENST00000642530.1:n.616+81T>C | ||
| ENST00000646272.1:c.341+81T>C | ENSP00000494337.1:n.341+81T>C | |
| ENST00000646939.1:c.341+81T>C | ENSP00000494709.1:n.341+81T>C | |
| ENST00000646963.1:c.341+81T>C | ENSP00000495337.1:n.341+81T>C | |
| ENST00000229810.9:c.341+81T>C | ENSP00000229810.8:n.341+81T>C | |
| ENST00000371175.8:c.341+81T>C | ENSP00000360217.4:n.341+81T>C | |
| ENST00000618248.3:c.341+81T>C | ENSP00000482984.1:n.341+81T>C | |
| NM_000324.2:c.341+81T>C | NP_000315.2:n.341+81T>C | |
| XM_011514788.1:c.341+81T>C | XP_011513090.1:n.341+81T>C | |
| NM_000324.3:c.341+81T>C MANE Select | NP_000315.2:n.341+81T>C |