Linked Data
dbSNP Id:
rs6806528
gnomAD v2:
3-69252899-C-T
gnomAD v3:
3-69203748-C-T
gnomAD v4:
3-69203748-C-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69203748C>T , CM000665.2:g.69203748C>T | GRCh38 |
| NC_000003.11:g.69252899C>T , CM000665.1:g.69252899C>T | GRCh37 |
| NC_000003.10:g.69335589C>T | NCBI36 |
| NG_034059.1:g.187557G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000398540.8:c.877-4974G>A MANE Select | ENSP00000381549.3:n.877-4974G>A | |
| ENST00000398540.7:c.877-4974G>A | ENSP00000381549.3:n.877-4974G>A | |
| ENST00000470070.6:n.771-4974G>A | ||
| ENST00000483668.5:n.489-4974G>A | ||
| ENST00000487751.1:n.502-4974G>A | ||
| NM_015123.2:c.877-4974G>A | NP_055938.1:n.877-4974G>A | |
| XM_005264721.2:c.910-4974G>A | XP_005264778.2:n.910-4974G>A | |
| XM_005264722.1:c.742-4974G>A | XP_005264779.1:n.742-4974G>A | |
| XM_006713063.2:c.715-4974G>A | XP_006713126.1:n.715-4974G>A | |
| XM_011533526.1:c.715-4974G>A | XP_011531828.1:n.715-4974G>A | |
| XM_011533527.1:c.142-4974G>A | XP_011531829.1:n.142-4974G>A | |
| XM_017005989.1:c.877-4974G>A | XP_016861478.1:n.877-4974G>A | |
| XM_017005990.1:c.742-4974G>A | XP_016861479.1:n.742-4974G>A | |
| XM_017005991.1:c.715-4974G>A | XP_016861480.1:n.715-4974G>A | |
| XM_017005992.1:c.715-4974G>A | XP_016861481.1:n.715-4974G>A | |
| XM_017005993.1:c.715-4974G>A | XP_016861482.1:n.715-4974G>A | |
| XM_017005994.1:c.715-4974G>A | XP_016861483.1:n.715-4974G>A | |
| XM_017005995.1:c.142-4974G>A | XP_016861484.1:n.142-4974G>A | |
| NM_015123.3:c.877-4974G>A MANE Select | NP_055938.2:n.877-4974G>A |