Linked Data
dbSNP Id:
rs1411193466
gnomAD v2:
9-101142877-A-G
gnomAD v3:
9-98380595-A-G
gnomAD v4:
9-98380595-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98380595A>G , CM000671.2:g.98380595A>G | GRCh38 |
| NC_000009.11:g.101142877A>G , CM000671.1:g.101142877A>G | GRCh37 |
| NC_000009.10:g.100182698A>G | NCBI36 |
| NG_016426.1:g.333603T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000259455.4:c.1662+5045T>C MANE Select | ENSP00000259455.2:n.1662+5045T>C | |
| ENST00000637410.1:n.1440+5045T>C | ||
| ENST00000259455.3:c.1662+5045T>C | ENSP00000259455.2:n.1662+5045T>C | |
| ENST00000634314.1:n.167+5045T>C | ||
| NM_005458.7:c.1662+5045T>C | NP_005449.5:n.1662+5045T>C | |
| XM_005252316.3:c.888+5045T>C | XP_005252373.1:n.888+5045T>C | |
| XM_005252316.5:c.888+5045T>C | XP_005252373.1:n.888+5045T>C | |
| XM_017015331.2:c.1368+5045T>C | XP_016870820.1:n.1368+5045T>C | |
| XM_017015332.2:c.888+5045T>C | XP_016870821.1:n.888+5045T>C | |
| NM_005458.8:c.1662+5045T>C MANE Select | NP_005449.5:n.1662+5045T>C |