Linked Data
dbSNP Id:
rs71581992
ExAC:
7:99366020 C / T
gnomAD v2:
7-99366020-C-T
gnomAD v4:
7-99768397-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99768397C>T , CM000669.2:g.99768397C>T | GRCh38 |
| NC_000007.13:g.99366020C>T , CM000669.1:g.99366020C>T | GRCh37 |
| NC_000007.12:g.99203956C>T | NCBI36 |
| NG_008421.1:g.20789G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.627G>A | ENSP00000337915.3:p.Lys209= | |
| ENST00000651514.1:c.627G>A MANE Select | ENSP00000498939.1:p.Lys209= | |
| ENST00000651783.1:c.168G>A | ENSP00000498924.1:p.Lys56= | |
| ENST00000652018.1:c.480G>A | ENSP00000498733.1:p.Lys160= | |
| ENST00000336411.6:c.627G>A | ENSP00000337915.2:p.Lys209= | |
| ENST00000354593.6:c.177G>A | ENSP00000346607.2:p.Lys59= | |
| NM_001202855.2:c.627G>A | NP_001189784.1:p.Lys209= | |
| NM_017460.5:c.627G>A | NP_059488.2:p.Lys209= | |
| XM_011515841.1:c.627G>A | XP_011514143.1:p.Lys209= | |
| XM_011515842.1:c.627G>A | XP_011514144.1:p.Lys209= | |
| NM_017460.6:c.627G>A MANE Select | NP_059488.2:p.Lys209= | |
| NM_001202855.3:c.627G>A | NP_001189784.1:p.Lys209= |