Linked Data
dbSNP Id:
rs199833512
gnomAD v2:
1-154548619-G-C
gnomAD v3:
1-154576143-G-C
gnomAD v4:
1-154576143-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154576143G>C , CM000663.2:g.154576143G>C | GRCh38 |
| NC_000001.10:g.154548619G>C , CM000663.1:g.154548619G>C | GRCh37 |
| NC_000001.9:g.152815243G>C | NCBI36 |
| NG_008027.1:g.13363G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.*211G>C MANE Select | ENSP00000357461.3:n.*211G>C | |
| ENST00000636034.1:c.1505+215G>C | ENSP00000489703.1:n.1505+215G>C | |
| ENST00000637900.1:c.*211G>C | ENSP00000490474.1:n.*211G>C | |
| ENST00000368476.3:c.*211G>C | ENSP00000357461.3:n.*211G>C | |
| NM_000748.2:c.*211G>C | NP_000739.1:n.*211G>C | |
| XM_017000180.2:c.*211G>C | XP_016855669.1:n.*211G>C | |
| XR_001736952.2:n.1972G>C | ||
| NM_000748.3:c.*211G>C MANE Select | NP_000739.1:n.*211G>C |