Linked Data
ClinVar Variation Id:
255432
ClinVar RCV Id:
RCV001162870
RCV001162871
RCV000875705
RCV000246171
RCV001682958
RCV002479957
RCV001164937
dbSNP Id:
rs61730503
ExAC:
7:42005869 C / T
gnomAD v2:
7-42005869-C-T
gnomAD v3:
7-41966271-C-T
gnomAD v4:
7-41966271-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41966271C>T , CM000669.2:g.41966271C>T | GRCh38 |
| NC_000007.13:g.42005869C>T , CM000669.1:g.42005869C>T | GRCh37 |
| NC_000007.12:g.41972394C>T | NCBI36 |
| NG_008434.1:g.275750G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395925.8:c.2802G>A MANE Select | ENSP00000379258.3:p.Ala934= | |
| ENST00000677288.1:c.2628G>A | ENSP00000503986.1:p.Ala876= | |
| ENST00000677605.1:c.2802G>A | ENSP00000503743.1:p.Ala934= | |
| ENST00000678429.1:c.2802G>A | ENSP00000502957.1:p.Ala934= | |
| ENST00000395925.7:c.2802G>A | ENSP00000379258.3:p.Ala934= | |
| ENST00000479210.1:n.2779G>A | ||
| NM_000168.5:c.2802G>A | NP_000159.3:p.Ala934= | |
| XM_005249703.1:c.2802G>A | XP_005249760.1:p.Ala934= | |
| XM_005249704.2:c.2802G>A | XP_005249761.1:p.Ala934= | |
| XM_011515272.1:c.2802G>A | XP_011513574.1:p.Ala934= | |
| XM_011515273.1:c.2802G>A | XP_011513575.1:p.Ala934= | |
| XM_011515274.1:c.2625G>A | XP_011513576.1:p.Ala875= | |
| XM_011515274.2:c.2625G>A | XP_011513576.1:p.Ala875= | |
| XM_017011997.1:c.2799G>A | XP_016867486.1:p.Ala933= | |
| NM_000168.6:c.2802G>A MANE Select | NP_000159.3:p.Ala934= |