Linked Data
ClinVar Variation Id:
99888
ClinVar RCV Id:
RCV000086328
RCV000505142
RCV000542027
RCV001074017
RCV001250608
RCV001275654
RCV001376474
RCV001723672
RCV003453019
dbSNP Id:
rs62636273
ExAC:
1:197398590 T / A
gnomAD v2:
1-197398590-T-A
gnomAD v3:
1-197429460-T-A
gnomAD v4:
1-197429460-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197429460T>A , CM000663.2:g.197429460T>A | GRCh38 |
| NC_000001.10:g.197398590T>A , CM000663.1:g.197398590T>A | GRCh37 |
| NC_000001.9:g.195665213T>A | NCBI36 |
| NG_008483.1:g.166183T>A | |
| NG_008483.2:g.232999T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367400.8:c.2688T>A MANE Select | ENSP00000356370.3:p.Cys896Ter | |
| ENST00000638467.1:c.2688T>A | ENSP00000491102.1:p.Cys896Ter | |
| ENST00000681519.1:c.1569T>A | ENSP00000505267.1:p.Cys523Ter | |
| ENST00000367397.1:c.831T>A | ENSP00000356367.1:p.Cys277Ter | |
| ENST00000367399.6:c.2352T>A | ENSP00000356369.2:p.Cys784Ter | |
| ENST00000367400.7:c.2688T>A | ENSP00000356370.3:p.Cys896Ter | |
| ENST00000484075.5:c.2688T>A | ENSP00000433932.1:p.Cys896Ter | |
| ENST00000535699.5:c.2616T>A | ENSP00000438786.1:p.Cys872Ter | |
| ENST00000538660.5:c.2129-6140T>A | ENSP00000438091.1:n.2129-6140T>A | |
| NM_001193640.1:c.2352T>A | NP_001180569.1:p.Cys784Ter | |
| NM_001257965.1:c.2616T>A | NP_001244894.1:p.Cys872Ter | |
| NM_001257966.1:c.2129-6140T>A | NP_001244895.1:n.2129-6140T>A | |
| NM_201253.2:c.2688T>A | NP_957705.1:p.Cys896Ter | |
| NR_047563.1:n.2689T>A | ||
| NR_047564.1:n.2897T>A | ||
| XM_011509365.1:c.2688T>A | XP_011507667.1:p.Cys896Ter | |
| XM_011509366.1:c.2688T>A | XP_011507668.1:p.Cys896Ter | |
| XM_011509367.1:c.2688T>A | XP_011507669.1:p.Cys896Ter | |
| XM_011509368.1:c.2106T>A | XP_011507670.1:p.Cys702Ter | |
| XM_011509369.1:c.1131T>A | XP_011507671.1:p.Cys377Ter | |
| XM_011509365.2:c.2688T>A | XP_011507667.1:p.Cys896Ter | |
| XM_011509369.2:c.1131T>A | XP_011507671.1:p.Cys377Ter | |
| XM_017000851.1:c.1845T>A | XP_016856340.1:p.Cys615Ter | |
| XM_017000852.1:c.2823T>A | XP_016856341.1:p.Cys941Ter | |
| NM_201253.3:c.2688T>A MANE Select | NP_957705.1:p.Cys896Ter | |
| NM_001193640.2:c.2352T>A | NP_001180569.1:p.Cys784Ter | |
| NM_001257965.2:c.2616T>A | NP_001244894.1:p.Cys872Ter | |
| NR_047563.2:n.2641T>A | ||
| NR_047564.2:n.2849T>A | ||
| NM_001257966.2:c.2129-6140T>A | NP_001244895.1:n.2129-6140T>A |