Linked Data
dbSNP Id:
rs753613967
ExAC:
15:75188563 T / A
gnomAD v2:
15-75188563-T-A
gnomAD v4:
15-74896222-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74896222T>A , CM000677.2:g.74896222T>A | GRCh38 |
| NC_000015.9:g.75188563T>A , CM000677.1:g.75188563T>A | GRCh37 |
| NC_000015.8:g.72975616T>A | NCBI36 |
| NG_008921.1:g.11154T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352410.9:c.741T>A MANE Select | ENSP00000318318.6:p.Gly247= | |
| ENST00000323744.10:c.558T>A | ENSP00000318192.6:p.Gly186= | |
| ENST00000352410.8:c.741T>A | ENSP00000318318.6:p.Gly247= | |
| ENST00000535694.5:c.591T>A | ENSP00000440447.1:p.Gly197= | |
| ENST00000562606.5:c.681T>A | ENSP00000457020.1:p.Gly227= | |
| ENST00000562800.5:c.256-1317T>A | ENSP00000457619.1:n.256-1317T>A | |
| ENST00000563422.5:c.741T>A | ENSP00000457885.1:p.Gly247= | |
| ENST00000563786.5:c.681T>A | ENSP00000455241.1:p.Gly227= | |
| ENST00000564003.5:c.408T>A | ENSP00000454312.1:p.Gly136= | |
| ENST00000566377.5:c.741T>A | ENSP00000455405.1:p.Gly247= | |
| ENST00000566556.1:n.789T>A | ||
| ENST00000567177.1:c.519T>A | ENSP00000457013.1:p.Gly173= | |
| ENST00000569931.5:c.681T>A | ENSP00000455161.1:p.Gly227= | |
| NM_001289155.1:c.741T>A | NP_001276084.1:p.Gly247= | |
| NM_001289156.1:c.591T>A | NP_001276085.1:p.Gly197= | |
| NM_001289157.1:c.558T>A | NP_001276086.1:p.Gly186= | |
| NM_002435.2:c.741T>A | NP_002426.1:p.Gly247= | |
| XM_011521592.1:c.729T>A | XP_011519894.1:p.Gly243= | |
| XM_011521593.1:c.681T>A | XP_011519895.1:p.Gly227= | |
| NM_001330372.1:c.681T>A | NP_001317301.1:p.Gly227= | |
| XM_017022208.1:c.681T>A | XP_016877697.1:p.Gly227= | |
| XM_017022209.2:c.591T>A | XP_016877698.1:p.Gly197= | |
| NM_002435.3:c.741T>A MANE Select | NP_002426.1:p.Gly247= | |
| NM_001289155.2:c.741T>A | NP_001276084.1:p.Gly247= | |
| NM_001289156.2:c.591T>A | NP_001276085.1:p.Gly197= | |
| NM_001289157.2:c.558T>A | NP_001276086.1:p.Gly186= | |
| NM_001330372.2:c.681T>A | NP_001317301.1:p.Gly227= |