Linked Data
dbSNP Id:
rs11720607
gnomAD v2:
3-172843277-T-G
gnomAD v3:
3-173125487-T-G
gnomAD v4:
3-173125487-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.173125487T>G , CM000665.2:g.173125487T>G | GRCh38 |
| NC_000003.11:g.172843277T>G , CM000665.1:g.172843277T>G | GRCh37 |
| NC_000003.10:g.174325971T>G | NCBI36 |
| NG_021422.1:g.20782A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351008.4:c.-18-7738A>C MANE Select | ENSP00000341765.3:n.-18-7738A>C | |
| ENST00000351008.3:c.-18-7738A>C | ENSP00000341765.3:n.-18-7738A>C | |
| NM_031955.5:c.-18-7738A>C | NP_114161.3:n.-18-7738A>C | |
| XM_006713778.2:c.-18-7738A>C | XP_006713841.1:n.-18-7738A>C | |
| XM_011513222.1:c.-18-7738A>C | XP_011511524.1:n.-18-7738A>C | |
| XR_924722.1:n.133+11135T>G | ||
| XM_006713778.3:c.-18-7738A>C | XP_006713841.1:n.-18-7738A>C | |
| XM_017007308.2:c.-18-7738A>C | XP_016862797.1:n.-18-7738A>C | |
| XR_001741021.1:n.65+11135T>G | ||
| NM_031955.6:c.-18-7738A>C MANE Select | NP_114161.3:n.-18-7738A>C |