Linked Data
ClinVar Variation Id:
161802
ClinVar RCV Id:
RCV000149338
dbSNP Id:
rs193920903
COSMIC:
COSM1180035
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.203016141G>A , CM000663.2:g.203016141G>A | GRCh38 |
| NC_000001.10:g.202985269G>A , CM000663.1:g.202985269G>A | GRCh37 |
| NC_000001.9:g.201251892G>A | NCBI36 |
| NG_053085.1:g.13775G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367242.4:c.708+1G>A MANE Select | ENSP00000356211.3:n.708+1G>A | |
| ENST00000367242.3:c.708+1G>A | ENSP00000356211.3:n.708+1G>A | |
| ENST00000468449.5:n.599+1G>A | ||
| ENST00000488097.2:n.301+1G>A | ||
| NM_138391.4:c.708+1G>A | NP_612400.3:n.708+1G>A | |
| XM_005245612.1:c.705+1G>A | XP_005245669.1:n.705+1G>A | |
| XM_011510157.1:c.618+1G>A | XP_011508459.1:n.618+1G>A | |
| XR_241106.1:n.782+1G>A | ||
| XR_922000.1:n.782+1G>A | ||
| NM_001322955.1:c.705+1G>A | NP_001309884.1:n.705+1G>A | |
| NM_001322956.1:c.705+1G>A | NP_001309885.1:n.705+1G>A | |
| NM_001322957.1:c.708+1G>A | NP_001309886.1:n.708+1G>A | |
| NM_001322958.1:c.618+1G>A | NP_001309887.1:n.618+1G>A | |
| NM_001322959.1:c.615+1G>A | NP_001309888.1:n.615+1G>A | |
| NM_001349859.1:c.411+1G>A | NP_001336788.1:n.411+1G>A | |
| NM_001349862.1:c.408+1G>A | NP_001336791.1:n.408+1G>A | |
| NM_138391.5:c.708+1G>A | NP_612400.3:n.708+1G>A | |
| NR_136530.1:n.807+1G>A | ||
| NR_136531.1:n.804+1G>A | ||
| NR_136532.1:n.807+1G>A | ||
| NR_136533.1:n.807+1G>A | ||
| NR_136534.1:n.804+1G>A | ||
| NR_146285.1:n.985+1G>A | ||
| NR_146286.1:n.988+1G>A | ||
| NR_146287.1:n.988+1G>A | ||
| NR_146288.1:n.807+1G>A | ||
| NR_146289.1:n.742+1G>A | ||
| NM_138391.6:c.708+1G>A MANE Select | NP_612400.3:n.708+1G>A | |
| NM_001322955.2:c.705+1G>A | NP_001309884.1:n.705+1G>A | |
| NM_001322956.2:c.705+1G>A | NP_001309885.1:n.705+1G>A | |
| NM_001322957.2:c.708+1G>A | NP_001309886.1:n.708+1G>A | |
| NM_001322958.2:c.618+1G>A | NP_001309887.1:n.618+1G>A | |
| NM_001322959.2:c.615+1G>A | NP_001309888.1:n.615+1G>A | |
| NR_136530.2:n.800+1G>A | ||
| NR_136531.2:n.797+1G>A | ||
| NR_136532.2:n.800+1G>A | ||
| NR_136533.2:n.800+1G>A | ||
| NR_136534.2:n.797+1G>A | ||
| NR_146285.2:n.978+1G>A | ||
| NR_146286.2:n.981+1G>A | ||
| NR_146287.2:n.981+1G>A | ||
| NR_146288.2:n.800+1G>A |