Linked Data
ClinVar Variation Id:
406791
ClinVar RCV Id:
RCV000474756
dbSNP Id:
rs1060501310
gnomAD v4:
2-214752446-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214752446C>G , CM000664.2:g.214752446C>G | GRCh38 |
| NC_000002.11:g.215617170C>G , CM000664.1:g.215617170C>G | GRCh37 |
| NC_000002.10:g.215325415C>G | NCBI36 |
| NG_012047.2:g.62259G>C | |
| NG_012047.3:g.62266G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260947.9:c.1677+1G>C MANE Select | ENSP00000260947.4:n.1677+1G>C | |
| ENST00000421162.2:c.324+1G>C | ENSP00000392245.2:n.324+1G>C | |
| ENST00000613192.2:c.159-21938G>C | ENSP00000483275.2:n.159-21938G>C | |
| ENST00000613374.5:c.267+1G>C | ENSP00000484464.1:n.267+1G>C | |
| ENST00000613706.5:c.1269+1G>C | ENSP00000484976.2:n.1269+1G>C | |
| ENST00000617164.5:c.1620+1G>C | ENSP00000480470.1:n.1620+1G>C | |
| ENST00000619009.5:c.365-21938G>C | ENSP00000482293.1:n.365-21938G>C | |
| ENST00000650978.1:c.3052+1G>C | ||
| ENST00000260947.8:c.1677+1G>C | ENSP00000260947.4:n.1677+1G>C | |
| ENST00000421162.1:c.324+1G>C | ENSP00000392245.1:n.324+1G>C | |
| ENST00000455743.5:c.*1297+1G>C | ENSP00000412186.1:n.*1297+1G>C | |
| ENST00000465841.1:n.32+1G>C | ||
| ENST00000613192.1:c.74-21938G>C | ENSP00000483275.1:n.74-21938G>C | |
| ENST00000613374.4:c.267+1G>C | ENSP00000484464.1:n.267+1G>C | |
| ENST00000613706.4:c.324+1G>C | ENSP00000484976.1:n.324+1G>C | |
| ENST00000617164.4:c.1620+1G>C | ENSP00000480470.1:n.1620+1G>C | |
| ENST00000619009.4:c.365-21938G>C | ENSP00000482293.1:n.365-21938G>C | |
| ENST00000620057.4:c.*343+1G>C | ENSP00000481988.1:n.*343+1G>C | |
| NM_000465.3:c.1677+1G>C | NP_000456.2:n.1677+1G>C | |
| NM_001282543.1:c.1620+1G>C | NP_001269472.1:n.1620+1G>C | |
| NM_001282545.1:c.324+1G>C | NP_001269474.1:n.324+1G>C | |
| NM_001282548.1:c.267+1G>C | NP_001269477.1:n.267+1G>C | |
| NM_001282549.1:c.365-21938G>C | NP_001269478.1:n.365-21938G>C | |
| NR_104212.1:n.1670+1G>C | ||
| NR_104215.1:n.1613+1G>C | ||
| NR_104216.1:n.869+1G>C | ||
| XM_011511567.1:c.1623+1G>C | XP_011509869.1:n.1623+1G>C | |
| XM_011511568.1:c.1677+1G>C | XP_011509870.1:n.1677+1G>C | |
| XM_017004613.1:c.1776+1G>C | XP_016860102.1:n.1776+1G>C | |
| XM_017004614.1:c.1776+1G>C | XP_016860103.1:n.1776+1G>C | |
| XR_002959322.1:n.1867+1G>C | ||
| NM_000465.4:c.1677+1G>C MANE Select | NP_000456.2:n.1677+1G>C | |
| NM_001282543.2:c.1620+1G>C | NP_001269472.1:n.1620+1G>C | |
| NM_001282545.2:c.324+1G>C | NP_001269474.1:n.324+1G>C | |
| NM_001282548.2:c.267+1G>C | NP_001269477.1:n.267+1G>C | |
| NM_001282549.2:c.365-21938G>C | NP_001269478.1:n.365-21938G>C | |
| NR_104212.2:n.1642+1G>C | ||
| NR_104215.2:n.1585+1G>C | ||
| NR_104216.2:n.841+1G>C |