Linked Data
dbSNP Id:
rs552547969
gnomAD v2:
2-109174581-T-C
gnomAD v3:
2-108558125-T-C
gnomAD v4:
2-108558125-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.108558125T>C , CM000664.2:g.108558125T>C | GRCh38 |
| NC_000002.11:g.109174581T>C , CM000664.1:g.109174581T>C | GRCh37 |
| NC_000002.10:g.108541013T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000544547.6:c.32+23531T>C MANE Select | ENSP00000437912.1:n.32+23531T>C | |
| ENST00000695516.1:c.59+24317T>C | ENSP00000511979.1:n.59+24317T>C | |
| ENST00000695517.1:c.32+23531T>C | ENSP00000511980.1:n.32+23531T>C | |
| ENST00000428064.5:c.32+23531T>C | ENSP00000390862.1:n.32+23531T>C | |
| ENST00000544547.5:c.32+23531T>C | ENSP00000437912.1:n.32+23531T>C | |
| NM_001193483.2:c.32+23531T>C | NP_001180412.1:n.32+23531T>C | |
| XM_005263949.1:c.32+23531T>C | XP_005264006.1:n.32+23531T>C | |
| XM_017004092.1:c.-84+23531T>C | XP_016859581.1:n.-84+23531T>C | |
| NM_001193483.3:c.32+23531T>C MANE Select | NP_001180412.1:n.32+23531T>C | |
| NM_001371495.1:c.32+23531T>C | NP_001358424.1:n.32+23531T>C | |
| NM_001371496.1:c.59+24317T>C | NP_001358425.1:n.59+24317T>C | |
| NM_001394896.1:c.32+23531T>C | NP_001381825.1:n.32+23531T>C | |
| NM_001394898.1:c.59+24317T>C | NP_001381827.1:n.59+24317T>C |