Linked Data
dbSNP Id:
rs12590273
gnomAD v2:
14-92934120-T-C
gnomAD v3:
14-92467776-T-C
gnomAD v4:
14-92467776-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92467776T>C , CM000676.2:g.92467776T>C | GRCh38 |
| NC_000014.8:g.92934120T>C , CM000676.1:g.92934120T>C | GRCh37 |
| NC_000014.7:g.92003873T>C | NCBI36 |
| NG_023408.1:g.150196T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000532405.6:c.1255+11168T>C MANE Select | ENSP00000431840.1:n.1255+11168T>C | |
| ENST00000676001.1:c.1255+11168T>C | ENSP00000502715.1:n.1255+11168T>C | |
| ENST00000393265.6:c.1063+11168T>C | ENSP00000376948.2:n.1063+11168T>C | |
| ENST00000525557.5:c.851+11168T>C | ||
| ENST00000526482.1:n.1509+11168T>C | ||
| ENST00000531433.5:c.1198+11168T>C | ENSP00000433302.1:n.1198+11168T>C | |
| ENST00000532405.5:c.1255+11168T>C | ENSP00000431840.1:n.1255+11168T>C | |
| ENST00000554925.5:n.708+11168T>C | ||
| NM_153646.3:c.1255+11168T>C | NP_705932.2:n.1255+11168T>C | |
| NM_153647.3:c.1198+11168T>C | NP_705933.2:n.1198+11168T>C | |
| NM_153648.3:c.1063+11168T>C | NP_705934.1:n.1063+11168T>C | |
| XM_005267342.1:c.811+11168T>C | XP_005267399.1:n.811+11168T>C | |
| XM_011536436.1:c.1396+11168T>C | XP_011534738.1:n.1396+11168T>C | |
| XM_011536437.1:c.1339+11168T>C | XP_011534739.1:n.1339+11168T>C | |
| XM_011536438.1:c.1396+11168T>C | XP_011534740.1:n.1396+11168T>C | |
| XM_011536439.1:c.1339+11168T>C | XP_011534741.1:n.1339+11168T>C | |
| XM_011536440.1:c.505+11168T>C | XP_011534742.1:n.505+11168T>C | |
| XM_011536441.1:c.337+11168T>C | XP_011534743.1:n.337+11168T>C | |
| XM_011536442.1:c.337+11168T>C | XP_011534744.1:n.337+11168T>C | |
| XM_005267342.2:c.811+11168T>C | XP_005267399.1:n.811+11168T>C | |
| XM_011536436.2:c.1396+11168T>C | XP_011534738.1:n.1396+11168T>C | |
| XM_011536437.2:c.1339+11168T>C | XP_011534739.1:n.1339+11168T>C | |
| XM_011536438.2:c.1396+11168T>C | XP_011534740.1:n.1396+11168T>C | |
| XM_011536439.2:c.1339+11168T>C | XP_011534741.1:n.1339+11168T>C | |
| XM_011536440.2:c.505+11168T>C | XP_011534742.1:n.505+11168T>C | |
| XM_024449478.1:c.1198+11168T>C | XP_024305246.1:n.1198+11168T>C | |
| NM_153647.4:c.1198+11168T>C | NP_705933.2:n.1198+11168T>C | |
| NM_001378620.1:c.1255+11168T>C | NP_001365549.1:n.1255+11168T>C | |
| NM_153646.4:c.1255+11168T>C MANE Select | NP_705932.2:n.1255+11168T>C | |
| NM_153648.4:c.1063+11168T>C | NP_705934.1:n.1063+11168T>C |