Linked Data
dbSNP Id:
rs11606194
gnomAD v2:
11-113780981-T-C
gnomAD v3:
11-113910259-T-C
gnomAD v4:
11-113910259-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113910259T>C , CM000673.2:g.113910259T>C | GRCh38 |
| NC_000011.9:g.113780981T>C , CM000673.1:g.113780981T>C | GRCh37 |
| NC_000011.8:g.113286191T>C | NCBI36 |
| NG_011483.1:g.10393T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260191.8:c.213+804T>C MANE Select | ENSP00000260191.2:n.213+804T>C | |
| ENST00000260191.7:c.213+804T>C | ENSP00000260191.2:n.213+804T>C | |
| ENST00000260191.6:c.213+804T>C | ENSP00000260191.2:n.213+804T>C | |
| ENST00000537778.5:c.180+804T>C | ENSP00000443118.1:n.180+804T>C | |
| NM_006028.4:c.213+804T>C | NP_006019.1:n.213+804T>C | |
| XM_011543063.1:c.180+804T>C | XP_011541365.1:n.180+804T>C | |
| XM_011543064.1:c.12+11176T>C | XP_011541366.1:n.12+11176T>C | |
| XM_011543066.1:c.180+804T>C | XP_011541368.1:n.180+804T>C | |
| NM_001363563.1:c.180+804T>C | NP_001350492.1:n.180+804T>C | |
| XM_024448767.1:c.-82+804T>C | XP_024304535.1:n.-82+804T>C | |
| XR_001748034.2:n.464+804T>C | ||
| NM_001363563.2:c.180+804T>C | NP_001350492.1:n.180+804T>C | |
| NM_006028.5:c.213+804T>C MANE Select | NP_006019.1:n.213+804T>C |