Linked Data
dbSNP Id:
rs17696736
gnomAD v2:
12-112486818-A-G
gnomAD v3:
12-112049014-A-G
gnomAD v4:
12-112049014-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112049014A>G , CM000674.2:g.112049014A>G | GRCh38 |
| NC_000012.11:g.112486818A>G , CM000674.1:g.112486818A>G | GRCh37 |
| NC_000012.10:g.110971201A>G | NCBI36 |
| NG_017071.1:g.64818T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261745.9:c.1729-571T>C MANE Select | ENSP00000261745.4:n.1729-571T>C | |
| ENST00000261745.8:c.1729-571T>C | ENSP00000261745.4:n.1729-571T>C | |
| ENST00000549711.5:c.*1435+469T>C | ENSP00000448200.1:n.*1435+469T>C | |
| ENST00000551858.1:c.*1816-571T>C | ENSP00000446719.1:n.*1816-571T>C | |
| ENST00000552527.5:n.1741-571T>C | ||
| NM_024953.3:c.1729-571T>C | NP_079229.2:n.1729-571T>C | |
| XM_005253938.1:c.1321-571T>C | XP_005253995.1:n.1321-571T>C | |
| XM_006719606.1:c.1645-571T>C | XP_006719669.1:n.1645-571T>C | |
| XR_243023.2:n.2106+469T>C | ||
| XR_944730.1:n.1982-571T>C | ||
| XR_944731.1:n.2110+469T>C | ||
| XM_006719606.2:c.1645-571T>C | XP_006719669.1:n.1645-571T>C | |
| XM_017019977.1:c.676-571T>C | XP_016875466.1:n.676-571T>C | |
| XR_002957380.1:n.1888+469T>C | ||
| XR_243023.4:n.1888+469T>C | ||
| XR_944730.3:n.1764-571T>C | ||
| XR_944731.3:n.1892+469T>C | ||
| NM_024953.4:c.1729-571T>C MANE Select | NP_079229.2:n.1729-571T>C |