Linked Data
ClinVar Variation Id:
735819
ClinVar RCV Id:
RCV000911411
dbSNP Id:
rs150636332
ExAC:
14:105676915 A / G
gnomAD v2:
14-105676915-A-G
gnomAD v3:
14-105210578-A-G
gnomAD v4:
14-105210578-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.105210578A>G , CM000676.2:g.105210578A>G | GRCh38 |
| NC_000014.8:g.105676915A>G , CM000676.1:g.105676915A>G | GRCh37 |
| NC_000014.7:g.104747960A>G | NCBI36 |
| NG_029489.1:g.110000T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547530.7:c.2007T>C MANE Select | ENSP00000448387.2:p.Cys669= | |
| ENST00000327359.7:c.1662T>C | ENSP00000329029.3:p.Cys554= | |
| ENST00000379932.8:c.267-928T>C | ENSP00000369264.5:n.267-928T>C | |
| ENST00000379937.6:c.1926T>C | ENSP00000369269.2:p.Cys642= | |
| ENST00000392557.8:c.1395T>C | ENSP00000376340.4:p.Cys465= | |
| ENST00000440513.7:c.1728T>C | ENSP00000388877.3:p.Cys576= | |
| ENST00000446501.6:c.1293T>C | ENSP00000389859.2:p.Cys431= | |
| ENST00000546997.1:n.1499T>C | ||
| ENST00000547374.5:n.2520T>C | ||
| ENST00000547530.6:c.2007T>C | ENSP00000448387.2:p.Cys669= | |
| ENST00000551787.5:c.403-919T>C | ENSP00000446901.1:n.403-919T>C | |
| ENST00000619151.4:c.392-919T>C | ENSP00000480452.1:n.392-919T>C | |
| ENST00000635152.1:n.1587T>C | ||
| NM_001242786.1:c.1728T>C | NP_001229715.1:p.Cys576= | |
| NM_001242787.1:c.1662T>C | NP_001229716.1:p.Cys554= | |
| NM_001242788.1:c.1926T>C | NP_001229717.1:p.Cys642= | |
| NM_001242789.1:c.1293T>C | NP_001229718.1:p.Cys431= | |
| NM_001519.3:c.2007T>C | NP_001510.2:p.Cys669= | |
| NM_145685.2:c.1395T>C | NP_663718.1:p.Cys465= | |
| XM_005267561.3:c.2004T>C | XP_005267618.1:p.Cys668= | |
| XM_005267563.2:c.1395T>C | XP_005267620.1:p.Cys465= | |
| XM_006720123.2:c.1344T>C | XP_006720186.1:p.Cys448= | |
| XM_011536673.1:c.1857T>C | XP_011534975.1:p.Cys619= | |
| XM_011536674.1:c.1494T>C | XP_011534976.1:p.Cys498= | |
| XM_005267561.4:c.2004T>C | XP_005267618.1:p.Cys668= | |
| XM_005267563.4:c.1395T>C | XP_005267620.1:p.Cys465= | |
| XM_011536673.2:c.1857T>C | XP_011534975.1:p.Cys619= | |
| XM_024449553.1:c.1293T>C | XP_024305321.1:p.Cys431= | |
| NM_001519.4:c.2007T>C MANE Select | NP_001510.2:p.Cys669= | |
| NM_001242788.2:c.1926T>C | NP_001229717.1:p.Cys642= | |
| NM_001242786.2:c.1728T>C | NP_001229715.1:p.Cys576= | |
| NM_001242787.2:c.1662T>C | NP_001229716.1:p.Cys554= | |
| NM_001242789.2:c.1293T>C | NP_001229718.1:p.Cys431= | |
| NM_145685.3:c.1395T>C | NP_663718.1:p.Cys465= |