Linked Data
dbSNP Id:
rs1224467938
ExAC:
8:11421482 G / T
gnomAD v2:
8-11421482-G-T
gnomAD v3:
8-11563973-G-T
gnomAD v4:
8-11563973-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11563973G>T , CM000670.2:g.11563973G>T | GRCh38 |
| NC_000008.10:g.11421482G>T , CM000670.1:g.11421482G>T | GRCh37 |
| NC_000008.9:g.11458891G>T | NCBI36 |
| NG_023543.1:g.74962G>T | |
| NG_023543.2:g.74962G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696154.2:n.1491G>T | ||
| ENST00000696154.1:c.*701G>T | ENSP00000512445.1:n.*701G>T | |
| ENST00000696155.1:n.267G>T | ||
| ENST00000259089.9:c.1383G>T MANE Select | ENSP00000259089.4:p.Pro461= | |
| ENST00000645242.1:c.1170G>T | ENSP00000494690.1:p.Pro390= | |
| ENST00000259089.8:c.1383G>T | ENSP00000259089.4:p.Pro461= | |
| ENST00000526097.1:n.1323G>T | ||
| ENST00000529894.1:c.1170G>T | ENSP00000433663.1:p.Pro390= | |
| NM_001715.2:c.1383G>T | NP_001706.2:p.Pro461= | |
| XM_011543824.1:c.1461G>T | XP_011542126.1:p.Pro487= | |
| XM_011543825.1:c.1461G>T | XP_011542127.1:p.Pro487= | |
| XM_011543826.1:c.1461G>T | XP_011542128.1:p.Pro487= | |
| XM_011543827.1:c.1248G>T | XP_011542129.1:p.Pro416= | |
| NM_001330465.1:c.1170G>T | NP_001317394.1:p.Pro390= | |
| XM_011543825.3:c.1461G>T | XP_011542127.1:p.Pro487= | |
| NM_001715.3:c.1383G>T MANE Select | NP_001706.2:p.Pro461= | |
| NM_001330465.2:c.1170G>T | NP_001317394.1:p.Pro390= |