Linked Data
dbSNP Id:
rs1403750201
gnomAD v2:
15-75188300-T-C
gnomAD v3:
15-74895959-T-C
gnomAD v4:
15-74895959-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74895959T>C , CM000677.2:g.74895959T>C | GRCh38 |
| NC_000015.9:g.75188300T>C , CM000677.1:g.75188300T>C | GRCh37 |
| NC_000015.8:g.72975353T>C | NCBI36 |
| NG_008921.1:g.10891T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352410.9:c.671-193T>C MANE Select | ENSP00000318318.6:n.671-193T>C | |
| ENST00000323744.10:c.488-193T>C | ENSP00000318192.6:n.488-193T>C | |
| ENST00000352410.8:c.671-193T>C | ENSP00000318318.6:n.671-193T>C | |
| ENST00000535694.5:c.521-193T>C | ENSP00000440447.1:n.521-193T>C | |
| ENST00000561470.5:c.*567-193T>C | ENSP00000454267.1:n.*567-193T>C | |
| ENST00000562606.5:c.611-193T>C | ENSP00000457020.1:n.611-193T>C | |
| ENST00000562800.5:c.256-1580T>C | ENSP00000457619.1:n.256-1580T>C | |
| ENST00000563422.5:c.671-193T>C | ENSP00000457885.1:n.671-193T>C | |
| ENST00000563786.5:c.611-193T>C | ENSP00000455241.1:n.611-193T>C | |
| ENST00000564003.5:c.338-193T>C | ENSP00000454312.1:n.338-193T>C | |
| ENST00000566377.5:c.671-193T>C | ENSP00000455405.1:n.671-193T>C | |
| ENST00000566556.1:n.526T>C | ||
| ENST00000567177.1:c.449-193T>C | ENSP00000457013.1:n.449-193T>C | |
| ENST00000569931.5:c.611-193T>C | ENSP00000455161.1:n.611-193T>C | |
| NM_001289155.1:c.671-193T>C | NP_001276084.1:n.671-193T>C | |
| NM_001289156.1:c.521-193T>C | NP_001276085.1:n.521-193T>C | |
| NM_001289157.1:c.488-193T>C | NP_001276086.1:n.488-193T>C | |
| NM_002435.2:c.671-193T>C | NP_002426.1:n.671-193T>C | |
| XM_011521592.1:c.659-193T>C | XP_011519894.1:n.659-193T>C | |
| XM_011521593.1:c.611-193T>C | XP_011519895.1:n.611-193T>C | |
| NM_001330372.1:c.611-193T>C | NP_001317301.1:n.611-193T>C | |
| XM_017022208.1:c.611-193T>C | XP_016877697.1:n.611-193T>C | |
| XM_017022209.2:c.521-193T>C | XP_016877698.1:n.521-193T>C | |
| NM_002435.3:c.671-193T>C MANE Select | NP_002426.1:n.671-193T>C | |
| NM_001289155.2:c.671-193T>C | NP_001276084.1:n.671-193T>C | |
| NM_001289156.2:c.521-193T>C | NP_001276085.1:n.521-193T>C | |
| NM_001289157.2:c.488-193T>C | NP_001276086.1:n.488-193T>C | |
| NM_001330372.2:c.611-193T>C | NP_001317301.1:n.611-193T>C |