Linked Data
dbSNP Id:
rs2070530
gnomAD v2:
21-40194109-G-C
gnomAD v3:
21-38822185-G-C
gnomAD v4:
21-38822185-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.38822185G>C , CM000683.2:g.38822185G>C | GRCh38 |
| NC_000021.8:g.40194109G>C , CM000683.1:g.40194109G>C | GRCh37 |
| NC_000021.7:g.39115979G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360214.8:c.1194+481G>C | ENSP00000353344.3:n.1194+481G>C | |
| ENST00000360938.8:c.1194+481G>C MANE Select | ENSP00000354194.3:n.1194+481G>C | |
| ENST00000653642.1:c.1194+481G>C | ENSP00000499315.1:n.1194+481G>C | |
| ENST00000662305.1:c.1194+481G>C | ENSP00000499226.1:n.1194+481G>C | |
| ENST00000666778.1:c.1194+481G>C | ENSP00000499775.1:n.1194+481G>C | |
| ENST00000667466.1:c.1299+481G>C | ENSP00000499540.1:n.1299+481G>C | |
| ENST00000360214.7:c.1194+481G>C | ENSP00000353344.3:n.1194+481G>C | |
| ENST00000360938.7:c.1194+481G>C | ENSP00000354194.3:n.1194+481G>C | |
| NM_001256295.1:c.1614+481G>C | NP_001243224.1:n.1614+481G>C | |
| NM_005239.5:c.1194+481G>C | NP_005230.1:n.1194+481G>C | |
| XM_005260935.1:c.1194+481G>C | XP_005260992.1:n.1194+481G>C | |
| XM_017028290.1:c.1194+481G>C | XP_016883779.1:n.1194+481G>C | |
| NM_005239.6:c.1194+481G>C MANE Select | NP_005230.1:n.1194+481G>C | |
| NM_001256295.2:c.1614+481G>C | NP_001243224.1:n.1614+481G>C |