Linked Data
dbSNP Id:
rs782479830
ExAC:
11:70319561 G / A
gnomAD v2:
11-70319561-G-A
gnomAD v4:
11-70473456-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70473456G>A , CM000673.2:g.70473456G>A | GRCh38 |
| NC_000011.9:g.70319561G>A , CM000673.1:g.70319561G>A | GRCh37 |
| NC_000011.8:g.69997209G>A | NCBI36 |
| NG_042866.1:g.656341C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338508.9:c.3213-17C>T | ENSP00000345193.7:n.3213-17C>T | |
| ENST00000412252.6:c.758-17C>T | ENSP00000414876.2:n.758-17C>T | |
| ENST00000601538.6:c.4980-17C>T MANE Select | ENSP00000469689.2:n.4980-17C>T | |
| ENST00000654939.1:c.2489-17C>T | ||
| ENST00000656230.1:c.3843-17C>T | ENSP00000499561.1:n.3843-17C>T | |
| ENST00000659264.1:c.3270-17C>T | ENSP00000499270.1:n.3270-17C>T | |
| ENST00000338508.8:c.3216-17C>T | ENSP00000345193.6:n.3216-17C>T | |
| ENST00000357171.7:c.719-17C>T | ENSP00000349694.4:n.719-17C>T | |
| ENST00000409161.5:c.3192-17C>T | ENSP00000386491.1:n.3192-17C>T | |
| ENST00000412252.5:c.756-17C>T | ||
| ENST00000423696.6:c.3843-17C>T | ENSP00000394536.2:n.3843-17C>T | |
| ENST00000424924.5:c.2817-17C>T | ENSP00000402944.1:n.2817-17C>T | |
| ENST00000449833.6:c.3216-17C>T | ENSP00000399423.3:n.3216-17C>T | |
| ENST00000601538.5:c.4980-17C>T | ENSP00000469689.2:n.4980-17C>T | |
| ENST00000606715.3:n.1715C>T | ||
| NM_012309.4:c.4980-17C>T | NP_036441.2:n.4980-17C>T | |
| NM_133266.4:c.3216-17C>T | NP_573573.2:n.3216-17C>T | |
| NR_110766.1:n.834-17C>T | ||
| XM_005277930.2:c.4980-17C>T | XP_005277987.1:n.4980-17C>T | |
| XM_005277932.2:c.3843-17C>T | XP_005277989.1:n.3843-17C>T | |
| XM_006718478.2:c.4950-17C>T | XP_006718541.1:n.4950-17C>T | |
| XM_011544854.1:c.4992-17C>T | XP_011543156.1:n.4992-17C>T | |
| XM_011544855.1:c.4971-17C>T | XP_011543157.1:n.4971-17C>T | |
| XM_011544856.1:c.4965-17C>T | XP_011543158.1:n.4965-17C>T | |
| XM_011544857.1:c.4944-17C>T | XP_011543159.1:n.4944-17C>T | |
| XM_011544859.1:c.3855-17C>T | XP_011543161.1:n.3855-17C>T | |
| XM_005277932.3:c.3843-17C>T | XP_005277989.1:n.3843-17C>T | |
| XM_017017387.1:c.4980-17C>T | XP_016872876.1:n.4980-17C>T | |
| XM_017017388.1:c.4980-17C>T | XP_016872877.1:n.4980-17C>T | |
| XM_017017389.1:c.4953-17C>T | XP_016872878.1:n.4953-17C>T | |
| XM_017017390.1:c.3270-17C>T | XP_016872879.1:n.3270-17C>T | |
| NM_133266.5:c.3216-17C>T | NP_573573.2:n.3216-17C>T | |
| NR_110766.2:n.835-17C>T | ||
| NM_001379226.1:c.3843-17C>T | NP_001366155.1:n.3843-17C>T | |
| NM_012309.5:c.4980-17C>T MANE Select | NP_036441.2:n.4980-17C>T |