Linked Data
dbSNP Id:
rs183196098
gnomAD v2:
11-70319609-G-T
gnomAD v3:
11-70473504-G-T
gnomAD v4:
11-70473504-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70473504G>T , CM000673.2:g.70473504G>T | GRCh38 |
| NC_000011.9:g.70319609G>T , CM000673.1:g.70319609G>T | GRCh37 |
| NC_000011.8:g.69997257G>T | NCBI36 |
| NG_042866.1:g.656293C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338508.9:c.3213-65C>A | ENSP00000345193.7:n.3213-65C>A | |
| ENST00000412252.6:c.758-65C>A | ENSP00000414876.2:n.758-65C>A | |
| ENST00000601538.6:c.4980-65C>A MANE Select | ENSP00000469689.2:n.4980-65C>A | |
| ENST00000654939.1:c.2489-65C>A | ||
| ENST00000656230.1:c.3843-65C>A | ENSP00000499561.1:n.3843-65C>A | |
| ENST00000659264.1:c.3270-65C>A | ENSP00000499270.1:n.3270-65C>A | |
| ENST00000338508.8:c.3216-65C>A | ENSP00000345193.6:n.3216-65C>A | |
| ENST00000357171.7:c.719-65C>A | ENSP00000349694.4:n.719-65C>A | |
| ENST00000409161.5:c.3192-65C>A | ENSP00000386491.1:n.3192-65C>A | |
| ENST00000412252.5:c.756-65C>A | ||
| ENST00000423696.6:c.3843-65C>A | ENSP00000394536.2:n.3843-65C>A | |
| ENST00000424924.5:c.2817-65C>A | ENSP00000402944.1:n.2817-65C>A | |
| ENST00000449833.6:c.3216-65C>A | ENSP00000399423.3:n.3216-65C>A | |
| ENST00000601538.5:c.4980-65C>A | ENSP00000469689.2:n.4980-65C>A | |
| ENST00000606715.3:n.1667C>A | ||
| NM_012309.4:c.4980-65C>A | NP_036441.2:n.4980-65C>A | |
| NM_133266.4:c.3216-65C>A | NP_573573.2:n.3216-65C>A | |
| NR_110766.1:n.834-65C>A | ||
| XM_005277930.2:c.4980-65C>A | XP_005277987.1:n.4980-65C>A | |
| XM_005277932.2:c.3843-65C>A | XP_005277989.1:n.3843-65C>A | |
| XM_006718478.2:c.4950-65C>A | XP_006718541.1:n.4950-65C>A | |
| XM_011544854.1:c.4992-65C>A | XP_011543156.1:n.4992-65C>A | |
| XM_011544855.1:c.4971-65C>A | XP_011543157.1:n.4971-65C>A | |
| XM_011544856.1:c.4965-65C>A | XP_011543158.1:n.4965-65C>A | |
| XM_011544857.1:c.4944-65C>A | XP_011543159.1:n.4944-65C>A | |
| XM_011544859.1:c.3855-65C>A | XP_011543161.1:n.3855-65C>A | |
| XM_005277932.3:c.3843-65C>A | XP_005277989.1:n.3843-65C>A | |
| XM_017017387.1:c.4980-65C>A | XP_016872876.1:n.4980-65C>A | |
| XM_017017388.1:c.4980-65C>A | XP_016872877.1:n.4980-65C>A | |
| XM_017017389.1:c.4953-65C>A | XP_016872878.1:n.4953-65C>A | |
| XM_017017390.1:c.3270-65C>A | XP_016872879.1:n.3270-65C>A | |
| NM_133266.5:c.3216-65C>A | NP_573573.2:n.3216-65C>A | |
| NR_110766.2:n.835-65C>A | ||
| NM_001379226.1:c.3843-65C>A | NP_001366155.1:n.3843-65C>A | |
| NM_012309.5:c.4980-65C>A MANE Select | NP_036441.2:n.4980-65C>A |