Linked Data
dbSNP Id:
rs2395730
gnomAD v2:
6-39784365-C-A
gnomAD v3:
6-39816589-C-A
gnomAD v4:
6-39816589-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.39816589C>A , CM000668.2:g.39816589C>A | GRCh38 |
| NC_000006.11:g.39784365C>A , CM000668.1:g.39784365C>A | GRCh37 |
| NC_000006.10:g.39892343C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274867.9:c.-57+24124C>A MANE Select | ENSP00000274867.4:n.-57+24124C>A | |
| ENST00000274867.8:c.-57+24124C>A | ENSP00000274867.4:n.-57+24124C>A | |
| ENST00000398904.6:c.-57+23446C>A | ENSP00000381876.2:n.-57+23446C>A | |
| ENST00000475489.5:n.70+24124C>A | ||
| ENST00000491083.2:n.90+24124C>A | ||
| ENST00000494405.2:c.-57+24124C>A | ENSP00000488196.1:n.-57+24124C>A | |
| ENST00000538976.5:c.-57+23446C>A | ENSP00000437808.1:n.-57+23446C>A | |
| ENST00000633794.1:c.-57+24124C>A | ENSP00000488831.1:n.-57+24124C>A | |
| NM_001201427.1:c.-57+24124C>A | NP_001188356.1:n.-57+24124C>A | |
| NM_015345.3:c.-57+23446C>A | NP_056160.2:n.-57+23446C>A | |
| XM_006715043.1:c.-57+24124C>A | XP_006715106.1:n.-57+24124C>A | |
| XM_006715046.2:c.-57+23446C>A | XP_006715109.1:n.-57+23446C>A | |
| XR_926775.1:n.38+3108G>T | ||
| XM_006715043.2:c.-57+24124C>A | XP_006715106.1:n.-57+24124C>A | |
| XM_006715046.4:c.-57+23446C>A | XP_006715109.1:n.-57+23446C>A | |
| XM_017010630.1:c.13+21838C>A | XP_016866119.1:n.13+21838C>A | |
| NM_001201427.2:c.-57+24124C>A MANE Select | NP_001188356.1:n.-57+24124C>A | |
| NM_015345.4:c.-57+23446C>A | NP_056160.2:n.-57+23446C>A |