Linked Data
dbSNP Id:
rs12038826
gnomAD v2:
1-230922951-T-C
gnomAD v3:
1-230787205-T-C
gnomAD v4:
1-230787205-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230787205T>C , CM000663.2:g.230787205T>C | GRCh38 |
| NC_000001.10:g.230922951T>C , CM000663.1:g.230922951T>C | GRCh37 |
| NC_000001.9:g.228989574T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000271971.7:c.1519-317T>C MANE Select | ENSP00000271971.2:n.1519-317T>C | |
| ENST00000271971.6:c.1519-317T>C | ENSP00000271971.2:n.1519-317T>C | |
| ENST00000354537.1:c.1441-317T>C | ENSP00000346538.1:n.1441-317T>C | |
| ENST00000366666.6:c.1330-317T>C | ENSP00000355626.2:n.1330-317T>C | |
| NM_006615.2:c.1519-317T>C | NP_006606.1:n.1519-317T>C | |
| NM_016452.1:c.1441-317T>C | NP_057536.1:n.1441-317T>C | |
| XM_005273010.2:c.1330-317T>C | XP_005273067.1:n.1330-317T>C | |
| XM_011544017.1:c.1519-317T>C | XP_011542319.1:n.1519-317T>C | |
| XM_011544018.1:c.1441-317T>C | XP_011542320.1:n.1441-317T>C | |
| XM_011544019.1:c.1330-317T>C | XP_011542321.1:n.1330-317T>C | |
| XM_011544020.1:c.934-317T>C | XP_011542322.1:n.934-317T>C | |
| XR_949127.1:n.1734-317T>C | ||
| NM_001319676.1:c.1330-317T>C | NP_001306605.1:n.1330-317T>C | |
| NM_016452.2:c.1441-317T>C | NP_057536.1:n.1441-317T>C | |
| XM_011544019.2:c.1330-317T>C | XP_011542321.1:n.1330-317T>C | |
| XM_017000098.1:c.1435-317T>C | XP_016855587.1:n.1435-317T>C | |
| XM_017000099.1:c.934-317T>C | XP_016855588.1:n.934-317T>C | |
| XM_024452513.1:c.565-317T>C | XP_024308281.1:n.565-317T>C | |
| XM_024452514.1:c.565-317T>C | XP_024308282.1:n.565-317T>C | |
| XR_001736933.1:n.1616-317T>C | ||
| XR_001738518.1:n.84+7908A>G | ||
| NM_006615.3:c.1519-317T>C MANE Select | NP_006606.1:n.1519-317T>C | |
| NM_001319676.2:c.1330-317T>C | NP_001306605.1:n.1330-317T>C | |
| NM_016452.3:c.1441-317T>C | NP_057536.1:n.1441-317T>C |