Linked Data
dbSNP Id:
rs947107632
gnomAD v2:
5-79924715-G-A
gnomAD v3:
5-80628896-G-A
gnomAD v4:
5-80628896-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80628896G>A , CM000667.2:g.80628896G>A | GRCh38 |
| NC_000005.9:g.79924715G>A , CM000667.1:g.79924715G>A | GRCh37 |
| NC_000005.8:g.79960471G>A | NCBI36 |
| NG_023304.1:g.31086C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439211.7:c.*191C>T MANE Select | ENSP00000396308.2:n.*191C>T | |
| ENST00000439211.6:c.*191C>T | ENSP00000396308.2:n.*191C>T | |
| ENST00000504396.1:c.*191C>T | ENSP00000421334.1:n.*191C>T | |
| ENST00000505337.5:c.*91C>T | ENSP00000426474.1:n.*91C>T | |
| ENST00000511032.5:c.*249C>T | ENSP00000422732.1:n.*249C>T | |
| ENST00000513048.5:n.636C>T | ||
| NM_000791.3:c.*191C>T | NP_000782.1:n.*191C>T | |
| NM_001290354.1:c.*191C>T | NP_001277283.1:n.*191C>T | |
| NM_001290357.1:c.*249C>T | NP_001277286.1:n.*249C>T | |
| NR_110936.1:n.1070C>T | ||
| NM_000791.4:c.*191C>T MANE Select | NP_000782.1:n.*191C>T | |
| NM_001290354.2:c.*191C>T | NP_001277283.1:n.*191C>T | |
| NM_001290357.2:c.*249C>T | NP_001277286.1:n.*249C>T | |
| NR_110936.2:n.1072C>T |