Linked Data
dbSNP Id:
rs758879703
ExAC:
15:85342384 G / T
gnomAD v2:
15-85342384-G-T
gnomAD v4:
15-84799153-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84799153G>T , CM000677.2:g.84799153G>T | GRCh38 |
| NC_000015.9:g.85342384G>T , CM000677.1:g.85342384G>T | GRCh37 |
| NC_000015.8:g.83143388G>T | NCBI36 |
| NG_028094.1:g.55567G>T | |
| NG_028094.2:g.55567G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560079.7:c.3080G>T MANE Select | ENSP00000452877.2:p.Ser1027Ile | |
| ENST00000299927.4:c.3080G>T | ENSP00000299927.3:p.Ser1027Ile | |
| ENST00000559607.1:c.*492G>T | ENSP00000453491.1:n.*492G>T | |
| ENST00000560079.6:c.3080G>T | ENSP00000452877.2:p.Ser1027Ile | |
| NM_014630.2:c.3080G>T | NP_055445.2:p.Ser1027Ile | |
| XM_005254996.2:c.3080G>T | XP_005255053.1:p.Ser1027Ile | |
| XM_011522246.1:c.3080G>T | XP_011520548.1:p.Ser1027Ile | |
| XM_011522247.1:c.3080G>T | XP_011520549.1:p.Ser1027Ile | |
| XM_011522248.1:c.3080G>T | XP_011520550.1:p.Ser1027Ile | |
| XR_931951.1:n.3468G>T | ||
| XM_005254996.3:c.3080G>T | XP_005255053.1:p.Ser1027Ile | |
| XM_011522246.2:c.3080G>T | XP_011520548.1:p.Ser1027Ile | |
| XM_011522247.2:c.3080G>T | XP_011520549.1:p.Ser1027Ile | |
| XM_011522248.2:c.3080G>T | XP_011520550.1:p.Ser1027Ile | |
| XM_017022734.1:c.3080G>T | XP_016878223.1:p.Ser1027Ile | |
| XR_931951.2:n.3473G>T | ||
| NM_014630.3:c.3080G>T MANE Select | NP_055445.2:p.Ser1027Ile |