Linked Data
dbSNP Id:
rs11062040
gnomAD v2:
12-2091257-C-T
gnomAD v3:
12-1982091-C-T
gnomAD v4:
12-1982091-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.1982091C>T , CM000674.2:g.1982091C>T | GRCh38 |
| NC_000012.11:g.2091257C>T , CM000674.1:g.2091257C>T | GRCh37 |
| NC_000012.10:g.1961518C>T | NCBI36 |
| NG_008801.2:g.16306C>T , LRG_334:g.16306C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682462.1:c.139+10890C>T (CACNA1C) | ENSP00000507105.1:n.139+10890C>T | |
| ENST00000682544.1:c.139+10890C>T (CACNA1C) | ENSP00000507184.1:n.139+10890C>T | |
| ENST00000683781.1:c.139+10890C>T (CACNA1C) | ENSP00000507434.1:n.139+10890C>T | |
| ENST00000683824.1:c.139+10890C>T (CACNA1C) | ENSP00000507867.1:n.139+10890C>T | |
| ENST00000683840.1:c.139+10890C>T (CACNA1C) | ENSP00000507612.1:n.139+10890C>T | |
| ENST00000683956.1:c.139+10890C>T (CACNA1C) | ENSP00000506882.1:n.139+10890C>T | |
| ENST00000280665.11:c.319+11173G>A (DCP1B) MANE Select | ENSP00000280665.6:n.319+11173G>A | |
| ENST00000280665.10:c.319+11173G>A (DCP1B) | ENSP00000280665.6:n.319+11173G>A | |
| ENST00000537725.1:n.315+11173G>A (DCP1B) | ||
| ENST00000541700.5:n.436+11173G>A (DCP1B) | ||
| ENST00000543114.1:c.139+10890C>T (CACNA1C) | ENSP00000445849.1:n.139+10890C>T | |
| ENST00000543381.5:c.*85+9030G>A (DCP1B) | ENSP00000445011.1:n.*85+9030G>A | |
| NM_152640.3:c.319+11173G>A (DCP1B) | NP_689853.3:n.319+11173G>A | |
| XM_006719017.1:c.139+10890C>T (CACNA1C) | XP_006719080.1:n.139+10890C>T | |
| XM_011520927.1:c.13+9030G>A (DCP1B) | XP_011519229.1:n.13+9030G>A | |
| XM_011520928.1:c.-62-2324G>A (DCP1B) | XP_011519230.1:n.-62-2324G>A | |
| XM_011521020.1:c.139+10890C>T (CACNA1C) | XP_011519322.1:n.139+10890C>T | |
| NM_152640.4:c.319+11173G>A (DCP1B) | NP_689853.3:n.319+11173G>A | |
| NR_135060.1:n.549+9030G>A (DCP1B) | ||
| XM_006719017.2:c.139+10890C>T (CACNA1C) | XP_006719080.1:n.139+10890C>T | |
| XM_011520927.3:c.13+9030G>A (DCP1B) | XP_011519229.1:n.13+9030G>A | |
| XM_011521020.2:c.139+10890C>T (CACNA1C) | XP_011519322.1:n.139+10890C>T | |
| XM_017019926.2:c.139+10890C>T (CACNA1C) | XP_016875415.1:n.139+10890C>T | |
| XM_017019927.2:c.139+10890C>T (CACNA1C) | XP_016875416.1:n.139+10890C>T | |
| XM_017019928.2:c.139+10890C>T (CACNA1C) | XP_016875417.1:n.139+10890C>T | |
| XM_017019929.2:c.139+10890C>T (CACNA1C) | XP_016875418.1:n.139+10890C>T | |
| XM_017019930.2:c.139+10890C>T (CACNA1C) | XP_016875419.1:n.139+10890C>T | |
| XM_017019931.2:c.139+10890C>T (CACNA1C) | XP_016875420.1:n.139+10890C>T | |
| XM_017019932.2:c.139+10890C>T (CACNA1C) | XP_016875421.1:n.139+10890C>T | |
| XM_017019933.2:c.139+10890C>T (CACNA1C) | XP_016875422.1:n.139+10890C>T | |
| XM_017019934.2:c.139+10890C>T (CACNA1C) | XP_016875423.1:n.139+10890C>T | |
| XM_017019935.2:c.139+10890C>T (CACNA1C) | XP_016875424.1:n.139+10890C>T | |
| XM_017019936.2:c.139+10890C>T (CACNA1C) | XP_016875425.1:n.139+10890C>T | |
| XM_017019937.2:c.139+10890C>T (CACNA1C) | XP_016875426.1:n.139+10890C>T | |
| XM_017019938.2:c.139+10890C>T (CACNA1C) | XP_016875427.1:n.139+10890C>T | |
| XM_017019939.2:c.139+10890C>T (CACNA1C) | XP_016875428.1:n.139+10890C>T | |
| XM_017019940.2:c.139+10890C>T (CACNA1C) | XP_016875429.1:n.139+10890C>T | |
| XM_017019941.2:c.139+10890C>T (CACNA1C) | XP_016875430.1:n.139+10890C>T | |
| XM_017019942.2:c.139+10890C>T (CACNA1C) | XP_016875431.1:n.139+10890C>T | |
| XM_017019943.2:c.139+10890C>T (CACNA1C) | XP_016875432.1:n.139+10890C>T | |
| XM_017019944.2:c.139+10890C>T (CACNA1C) | XP_016875433.1:n.139+10890C>T | |
| XM_017019945.2:c.139+10890C>T (CACNA1C) | XP_016875434.1:n.139+10890C>T | |
| XM_017019946.2:c.139+10890C>T (CACNA1C) | XP_016875435.1:n.139+10890C>T | |
| XM_017019947.2:c.139+10890C>T (CACNA1C) | XP_016875436.1:n.139+10890C>T | |
| XM_017019948.2:c.139+10890C>T (CACNA1C) | XP_016875437.1:n.139+10890C>T | |
| XM_017019949.2:c.139+10890C>T (CACNA1C) | XP_016875438.1:n.139+10890C>T | |
| XM_017019950.2:c.139+10890C>T (CACNA1C) | XP_016875439.1:n.139+10890C>T | |
| XM_017019951.2:c.139+10890C>T (CACNA1C) | XP_016875440.1:n.139+10890C>T | |
| XM_017019952.2:c.139+10890C>T (CACNA1C) | XP_016875441.1:n.139+10890C>T | |
| XM_017019953.1:c.139+10890C>T (CACNA1C) | XP_016875442.1:n.139+10890C>T | |
| XM_017019954.1:c.139+10890C>T (CACNA1C) | XP_016875443.1:n.139+10890C>T | |
| XM_017019955.2:c.139+10890C>T (CACNA1C) | XP_016875444.1:n.139+10890C>T | |
| NM_152640.5:c.319+11173G>A (DCP1B) MANE Select | NP_689853.3:n.319+11173G>A | |
| NR_135060.2:n.471+9030G>A (DCP1B) |