Linked Data
dbSNP Id:
rs4691380
gnomAD v2:
4-157720124-C-T
gnomAD v3:
4-156798972-C-T
gnomAD v4:
4-156798972-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.156798972C>T , CM000666.2:g.156798972C>T | GRCh38 |
| NC_000004.11:g.157720124C>T , CM000666.1:g.157720124C>T | GRCh37 |
| NC_000004.10:g.157939574C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502773.6:c.495+11865G>A MANE Select | ENSP00000422464.1:n.495+11865G>A | |
| ENST00000274071.6:c.*403+11865G>A | ENSP00000274071.2:n.*403+11865G>A | |
| ENST00000422544.2:c.495+11865G>A | ENSP00000410048.2:n.495+11865G>A | |
| ENST00000502773.5:c.495+11865G>A | ENSP00000422464.1:n.495+11865G>A | |
| ENST00000506880.5:c.149+11865G>A | ||
| ENST00000511985.1:n.55+11865G>A | ||
| ENST00000512711.1:n.418-26079G>A | ||
| NM_016205.2:c.495+11865G>A | NP_057289.1:n.495+11865G>A | |
| NR_036641.1:n.1047+11865G>A | ||
| XM_011532124.1:c.462+11865G>A | XP_011530426.1:n.462+11865G>A | |
| XM_011532125.1:c.426+11865G>A | XP_011530427.1:n.426+11865G>A | |
| XM_011532124.2:c.462+11865G>A | XP_011530426.1:n.462+11865G>A | |
| XM_017008455.1:c.390+11865G>A | XP_016863944.1:n.390+11865G>A | |
| XM_017008456.2:c.495+11865G>A | XP_016863945.1:n.495+11865G>A | |
| NM_016205.3:c.495+11865G>A MANE Select | NP_057289.1:n.495+11865G>A | |
| NR_036641.2:n.1452+11865G>A |