Linked Data
dbSNP Id:
rs10937470
gnomAD v2:
3-191000808-C-T
gnomAD v3:
3-191283019-C-T
gnomAD v4:
3-191283019-C-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.191283019C>T , CM000665.2:g.191283019C>T | GRCh38 |
| NC_000003.11:g.191000808C>T , CM000665.1:g.191000808C>T | GRCh37 |
| NC_000003.10:g.192483502C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340524.10:c.-124-706G>A MANE Select | ENSP00000340526.5:n.-124-706G>A | |
| ENST00000340524.9:c.-124-706G>A | ENSP00000340526.5:n.-124-706G>A | |
| ENST00000432514.5:c.-124-706G>A | ENSP00000401028.1:n.-124-706G>A | |
| ENST00000463450.1:n.184-706G>A | ||
| NM_198152.3:c.-124-706G>A | NP_937795.2:n.-124-706G>A | |
| XM_011512631.1:c.-124-706G>A | XP_011510933.1:n.-124-706G>A | |
| XM_011512631.2:c.-124-706G>A | XP_011510933.1:n.-124-706G>A | |
| XM_017006091.1:c.-124-706G>A | XP_016861580.1:n.-124-706G>A | |
| NM_198152.4:c.-124-706G>A | NP_937795.2:n.-124-706G>A | |
| NM_198152.5:c.-124-706G>A MANE Select | NP_937795.2:n.-124-706G>A |