Linked Data
dbSNP Id:
rs1369931320
gnomAD v2:
17-61554951-G-T
gnomAD v3:
17-63477590-G-T
gnomAD v4:
17-63477590-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63477590G>T , CM000679.2:g.63477590G>T | GRCh38 |
| NC_000017.10:g.61554951G>T , CM000679.1:g.61554951G>T | GRCh37 |
| NC_000017.9:g.58908683G>T | NCBI36 |
| NG_011648.1:g.5518G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.249+247G>T MANE Select | ENSP00000290866.4:n.249+247G>T | |
| ENST00000290866.9:c.249+247G>T | ENSP00000290866.4:n.249+247G>T | |
| ENST00000428043.5:c.249+247G>T | ENSP00000397593.2:n.249+247G>T | |
| ENST00000579462.1:n.274+247G>T | ||
| ENST00000580318.1:n.98G>T | ||
| ENST00000582627.1:c.49G>T | ENSP00000462280.1:p.Ala17Ser | |
| ENST00000582678.5:c.249+247G>T | ENSP00000462995.1:n.249+247G>T | |
| ENST00000583336.5:n.283+247G>T | ||
| ENST00000584529.5:n.283+247G>T | ||
| NM_000789.3:c.249+247G>T | NP_000780.1:n.249+247G>T | |
| XM_005257110.1:c.-207+247G>T | XP_005257167.1:n.-207+247G>T | |
| NM_000789.4:c.249+247G>T MANE Select | NP_000780.1:n.249+247G>T | |
| NM_001382700.1:c.14+247G>T | NP_001369629.1:n.14+247G>T | |
| NM_001382701.1:c.-366+247G>T | NP_001369630.1:n.-366+247G>T |