Linked Data
dbSNP Id:
rs12409639
gnomAD v2:
1-205638222-G-A
gnomAD v3:
1-205669094-G-A
gnomAD v4:
1-205669094-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.205669094G>A , CM000663.2:g.205669094G>A | GRCh38 |
| NC_000001.10:g.205638222G>A , CM000663.1:g.205638222G>A | GRCh37 |
| NC_000001.9:g.203904845G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367145.4:c.-230-4208C>T MANE Select | ENSP00000356113.3:n.-230-4208C>T | |
| ENST00000367145.3:c.-230-4208C>T | ENSP00000356113.3:n.-230-4208C>T | |
| NM_033102.2:c.-230-4208C>T | NP_149093.1:n.-230-4208C>T | |
| XM_005245556.2:c.-231+601C>T | XP_005245613.1:n.-231+601C>T | |
| XM_005245557.3:c.-230-4208C>T | XP_005245614.1:n.-230-4208C>T | |
| XM_005245559.3:c.-231+2856C>T | XP_005245616.1:n.-231+2856C>T | |
| XM_005245560.2:c.-230-4208C>T | XP_005245617.1:n.-230-4208C>T | |
| NM_033102.3:c.-230-4208C>T MANE Select | NP_149093.1:n.-230-4208C>T |