Linked Data
dbSNP Id:
rs587689953
gnomAD v2:
1-150319052-G-T
gnomAD v3:
1-150346576-G-T
gnomAD v4:
1-150346576-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150346576G>T , CM000663.2:g.150346576G>T | GRCh38 |
| NC_000001.10:g.150319052G>T , CM000663.1:g.150319052G>T | GRCh37 |
| NC_000001.9:g.148585676G>T | NCBI36 |
| NG_008245.1:g.30125G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324862.7:c.1843+85G>T MANE Select | ENSP00000315379.6:n.1843+85G>T | |
| ENST00000324862.6:c.1843+85G>T | ENSP00000315379.6:n.1843+85G>T | |
| ENST00000467329.5:n.2170+85G>T | ||
| ENST00000476970.1:n.952+85G>T | ||
| NM_004698.2:c.1843+85G>T | NP_004689.1:n.1843+85G>T | |
| XM_011510128.1:c.1853+75G>T | XP_011508430.1:n.1853+75G>T | |
| XM_011510129.1:c.1438+85G>T | XP_011508431.1:n.1438+85G>T | |
| XM_011510130.1:c.1411+85G>T | XP_011508432.1:n.1411+85G>T | |
| XR_241103.1:n.1826+85G>T | ||
| XR_921997.1:n.1836+75G>T | ||
| XR_921998.1:n.1940+85G>T | ||
| NM_001350529.1:c.1438+85G>T | NP_001337458.1:n.1438+85G>T | |
| NM_004698.3:c.1843+85G>T | NP_004689.1:n.1843+85G>T | |
| NR_146766.1:n.2074+85G>T | ||
| NR_146767.1:n.2170+85G>T | ||
| NR_146768.1:n.2026+75G>T | ||
| NR_146769.1:n.2079+75G>T | ||
| XM_011510130.3:c.1411+85G>T | XP_011508432.1:n.1411+85G>T | |
| XM_017002790.1:c.1411+85G>T | XP_016858279.1:n.1411+85G>T | |
| XR_001737536.2:n.1876+85G>T | ||
| XR_001737537.2:n.1990+85G>T | ||
| XR_001737540.2:n.2747+85G>T | ||
| XR_001737541.2:n.1770+85G>T | ||
| XR_002958009.1:n.2500+85G>T | ||
| XR_002958010.1:n.3746+75G>T | ||
| XR_002958012.1:n.1942+75G>T | ||
| XR_241103.3:n.1818+85G>T | ||
| XR_921997.3:n.1828+75G>T | ||
| XR_921998.3:n.1932+85G>T | ||
| NM_004698.4:c.1843+85G>T MANE Select | NP_004689.1:n.1843+85G>T |